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Canonical Allele Identifier: Get Identifier
Gene: ABCA4 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.[Ser2224_Tyr2234delinsProGlnGlyGlnProAlaHisArgGlyValLeu;Val2236His;Gln2238_Thr2239delinsAspHis;Leu2241_Gln2243delinsGlyProGly;Phe2245_Asn2247delinsCysLys;Ala2249_Thr2253delinsCys]
CA915941320
NM_000350.3:c.6670_6671del